Syndrome of undifferentiated connective tissue dysplasia. All about connective tissue dysplasia. Heart valve dysfunction syndrome

Connective tissue dysplasia is a pathology of its development that occurs due to genetic mutations. The consequence of the disease is disruption of homeostasis at the tissue level, as well as the whole organism.

A differentiated form, characterized by a certain mode of inheritance, which has a clear clinical picture, and often also established and long-studied biochemical or gene abnormalities. This type of DST is called collagenopathy in medicine, as it belongs to hereditary abnormalities of collagen.

The undifferentiated form is diagnosed only when none of the symptoms of the disease can be attributed to the differentiated form of DST. This pathology is especially common.

Causes

DST is a hereditary disease based on mutations in the genes responsible for the formation of fibers. Such processes can be very diverse; various genes may be involved, which leads to abnormal formation of collagen and elastin chains; as a result, the structures formed by them are not able to withstand the necessary mechanical loads.

Symptoms

This congenital pathology has a scattered symptomatic picture with a large number of signs.

External symptoms:

loose joints,
increased elasticity of the skin,
deformation of the spine, the presence of scoliosis or kyphosis, visual impairment,
deformation of the sternum, translucent thin skin with a venous network on the skin,
asymmetry of the blades,
problems with posture,
rapid appearance of bruises,
weak abdominal muscles,
presence of muscle hypotonia,
deviated or asymmetrical nasal septum,
soft skin,
the presence of intervertebral hernias,
problems with tooth growth.

Internal characteristics are formed over the years:

presence of biliary dyskinesia,
prolapse of internal organs,
development of reflux disease,
heart murmur
frequent constipation,
the presence of hemorrhagic syndrome, the signs of which are nosebleeds, a tendency to form hematomas with minor trauma,
mitral valve prolapse,
presence of Schmorl's hernia,
varicose veins veins in the legs,
development of juvenile osteoporosis,
microtraumatic “transient” arthritis, vegetative dystonia,
predisposition to frequent loss of consciousness,
development of vertebrobasilar insufficiency due to problems with the cervical spine,
hyperexcitability.

Diagnosis of connective tissue dysplasia in a child

In order to diagnose this disease, a number of clinical and genealogical studies are carried out.

However, in addition to this, specialists use using the following methods diagnostics

1. Analysis of patient complaints. Mostly children complain about whole line symptoms, ranging from bloating in the abdomen and dysbacteriosis, and ending with deviations observed in the functioning of the respiratory system, which is associated with weakness of the bronchi and alveoli. At the same time, accurate diagnosis is facilitated by the observation of certain cosmetic defects, as well as impaired motor function of the joints.

2. For the purpose of diagnosis, the doctor measures the length of all parts of the patient’s torso. A characteristic “wrist test” is used when the child thumb or he is able to clasp it entirely with his little finger.

3. The mobile function of the joints is assessed, for which the Beighton criteria are applied. Typically, patients experience hypermobility.

4. A daily urine test is taken, in which the determination of hydroxyproline and glycosaminoglycans, which prove the fact of collagen destruction, is important.

In general, diagnosing this disease is not difficult for an experienced specialist; often a visual examination is enough to understand what the problem is.

Complications

Children often experience complications in the form of problems with the functioning of the heart muscle, visual impairment, and joint problems.

Patients with the existing diagnosis belong to the category of psychological risk. This is especially noticeable not in childhood, but with age. Sufferers of DSD are prone to low self-esteem and have a low level of aspirations.

Feelings of increased anxiety and depression lead to high vulnerability of patients. Cosmetic features in appearance make patients with DST insecure, lacking initiative, constantly dissatisfied with what is happening in their lives, reproaching themselves for any mistake.

Treatment

What can you do

If symptoms are detected and if the child complains of poor health or fatigue, you should consult a doctor. A diagnosis such as DST can be made in a clinical setting.

What does a doctor do

Therapy for the diagnosis of DST is carried out comprehensively and includes:

Drug treatment based on the use of drugs that will help activate the formation of collagen.
Non-drug techniques, which include the provision of psychological assistance, individualization of the daily routine, exercises included in physical therapy, massage, physiotherapeutic procedures, acupuncture, and the choice of a specific diet.

Prevention

Preventive measures according to DST does not exist in principle, since it is a congenital disease caused by mutations in genetic level. But correct image life, a healthy balanced diet and recommendations from doctors can alleviate the condition of a child with such a diagnosis, increasing his quality of life.

Connective tissue dysplasia is a disorder of the formation and development of connective tissue, observed both during the growth stage of the embryo and in people after their birth. In general, the term dysplasia refers to any disorder in the formation of tissues or organs, which can occur both in utero and postnatally. Pathologies occur due to genetic factors and affect both the fibrous structures and the basic substance that makes up the connective tissue.

Sometimes you can find names such as connective tissue dysplasia, congenital connective tissue deficiency, hereditary collagenopathy, hypermobility syndrome. All these definitions are synonyms of the main name of the disease.

Genetic mutations occur anywhere, since connective tissue is distributed throughout the body. The chains of elastane and collagen, of which it consists, under the influence of malfunctioning, mutated genes, are formed with disturbances and are unable to withstand the mechanical loads placed on them.

This genetic pathology is classified as follows:

Dysplasia differentiated. It is caused by a hereditary factor of a certain type and is clinically clearly manifested. Gene defects and biochemical processes are well studied. All diseases associated with differentiated dysplasia are called collagenopathies. This name is due to the fact that the pathology is characterized by disturbances in the formation of collagen. This group includes diseases such as lax skin syndrome, Marfan syndrome and Ehlers-Danlos syndromes (all 10 types).

Undifferentiated dysplasia. Similar diagnosis is placed in the case when the signs of a disease that has affected a person cannot be attributed to a differentiated pathology. This type of dysplasia is most common. The disease affects both children and young people.

It is worth noting that people with this type of dysplasia are not considered sick. They just have a potential tendency to a large number of pathologies. This requires them to be constantly under medical supervision.

Pathology manifests itself with many symptoms. Their severity can be mild or severe.

The disease manifests itself individually in each patient, however, it was possible to combine the symptoms of impaired connective tissue formation into several large groups of syndromes:

Neurological disorders. They occur very often, in almost 80% of patients. Expressed autonomic dysfunction in panic attacks, rapid heartbeat, dizziness, increased sweating, fainting and other manifestations.

Asthenic syndrome, which is characterized by low performance, rapid fatigue, severe psycho-emotional disorders, and the inability to tolerate intense physical activity.

Disturbances in the activity of the heart valves or valvular syndrome. It is expressed in myxomatous valve degeneration (a progressive condition that changes the anatomy of the valve leaflets and reduces their performance) and in prolapse of the heart valves.

Thoradiaphragmatic syndrome, which is expressed in disturbances in the structure of the chest, leading to its funnel-shaped or keeled deformity. Sometimes there is deformation spinal column, expressed in scoliosis, hyperkyphosis, kyphoscoliosis.

When sick they also suffer blood vessels. This is expressed in varicose veins, muscle damage to the arteries, the appearance of spider veins, and damage to the inner layer of vascular cells (endothelial dysfunction).

Sudden death syndrome, which is caused by disturbances in the functioning of the valves and blood vessels of the heart.

Low body weight.

Increased joint mobility. For example, a patient suffering from dysplasia can bend the little finger in the opposite direction by 90 degrees, or hyperextend the elbows and knees in the joints.

Valgus deformity of the lower extremities, when the legs are shaped like the letter X due to changes.

Gastrointestinal disorders, expressed in constipation, abdominal pain or bloating, and decreased appetite.

Frequent diseases of ENT organs. Pneumonia and bronchitis become constant companions of people with a similar genetic anomaly.

Muscle weakness.

The skin is transparent, dry and flaccid, retracts painlessly, and can sometimes form an unnatural fold on the ears or tip of the nose.

Patients suffer from flat feet, both transverse and longitudinal.

The upper and lower jaw grow slowly and in size do not correspond to the general proportions of a person.

Immunological disorders, allergic reactions.

Dislocations and subluxations of joints.

Myopia, retinal angiopathy, astigmatism, lens subluxation, strabismus and retinal detachment.

Neurotic disorders, expressed in depression, phobias and anorexia nervosa.

Psychological problems of patients suffering from connective tissue dysplasia

Patients with an established diagnosis belong to the psychological risk group. They underestimate own capabilities, have a low level of aspirations.

Increased anxiety and depression make patients highly vulnerable. Cosmetic defects in appearance make such people insecure, dissatisfied with life, lacking initiative, and reproaching themselves for every little thing. Patients often experience suicidal tendencies.

Against the background of these manifestations, patients with dysplasia have a significantly reduced standard of living, and social adaptation is difficult. Sometimes autism occurs.

Causes

The occurrence of pathological processes is based on certain gene mutations. This disease can be inherited.

Some scientists also express the opinion that this type of dysplasia may be caused by a deficiency of magnesium in the body.

Diagnostics

Since the disease is a consequence of genetic mutations, its diagnosis requires clinical and genealogical research.

But in addition to this, doctors use the following methods to clarify the diagnosis:

Analysis of patient complaints. In most cases, patients indicate problems with the cardiovascular system. Mitral valve prolapse is often detected, and aortic aneurysm is less common. Patients also suffer from abdominal pain, bloating, and dysbiosis. There are deviations in the respiratory system, which is due to weak walls of the bronchi and alveoli. Naturally, cosmetic defects, as well as disorders in the functioning of the joints, cannot be left without attention.

Anamnesis collection, which consists of studying the medical history. People suffering from such a genetic disease are frequent “guests” of cardiologists, orthopedists, ENT doctors, and gastroenterologists.

It is necessary to measure the length of all body segments.

The so-called “wrist test” is also used, when the patient can clasp it completely with the help of his thumb or little finger.

Joint mobility is assessed using the Beighton criteria. As a rule, patients experience hypermobility.

Taking a daily urine sample in which hydroxyproline and glycosaminoglycans are determined, as a result of collagen breakdown.

In general, diagnosing the disease is not difficult, and one glance at the patient is enough for an experienced doctor to understand what his problem is.

It should be understood that this pathology of connective tissue cannot be treated, but by applying an integrated approach to the treatment of the disease, it is possible to slow down the process of its development and significantly make a person’s life easier.

The main methods of treatment and prevention include the following:

Selection of specialized physical training complexes, physiotherapy.

Maintaining proper diet.

Taking medications to improve metabolism and stimulate collagen production.

A surgical intervention aimed at correcting the chest and musculoskeletal system.

Therapy without the use of drugs

First of all, it is necessary to provide the patient with psychological support, to set him up to resist the disease. It is worth giving him clear recommendations on maintaining the correct daily routine, determining therapeutic and physical training complexes and the minimum necessary loads. Patients are required to undergo exercise therapy systematically, up to several courses per year. Useful, but only in the absence of hypermobility of the joints, sprains, hanging - according to the strict recommendations of the doctor, as well as swimming, playing various sports that are not included in the list of contraindications.

So, non-drug treatment includes:

Therapeutic massage courses.

Performing a set of individually selected exercises.

Sports activities.

Physiotherapy: wearing a collar, ultraviolet irradiation, salt baths, rubbing and dousing.

Psychotherapy with visits to a psychologist and psychiatrist, depending on the severity of the psychotherapy emotional state patient.

Diet for connective tissue dysplasia

The diet for people suffering from dysplasia is different from regular diets. Patients need to eat a lot, since collagen tends to disintegrate instantly. The diet must include fish and all seafood (in the absence of allergies), meat, and legumes.

You can and should eat rich meat broths, vegetables and fruits. Be sure to include hard cheeses in the patient’s diet. On the recommendation of a doctor, you should use active biological additives belonging to the Omega class.

Taking medications

The medications are taken in courses, depending on the patient’s condition, from 1 to 3 times a year. One course lasts approximately 6 – 8 weeks. All medications must be taken under the strict supervision of a physician, with monitoring of vital signs. It is advisable to change drugs in order to select the optimal drugs.

To stimulate collagen production, synthetic B vitamins, Ascorbic acid, Copper sulfate 1%, Magnesium citrate and other complexes are used.

For the catabolism of glycosaminoglycans, Chondrotin sulfate, Chondroxide, Rumalon are prescribed.

To stabilize mineral metabolism, Osteogenon, Alfacalcidol, Calcium Upsavit and other agents are used.

To normalize the level of free amino acids in the blood, Glycine, Potassium orotate, and Glutamic acid are prescribed.

To normalize the bioenergetic state, Riboxin, Mildronate, Limontar, Lecithin, etc. are prescribed.

Surgical intervention

Indications for surgical intervention are prolapsed valves and severe vascular pathologies. Surgery is also necessary for obvious deformities of the chest or spinal column. If it poses a threat to the patient's life or significantly impairs his quality of life.

Contraindications

People suffering from this pathology are contraindicated:

Psychological overload and stress.

Difficult working conditions. Professions associated with constant vibration, radiation and high temperatures.

All types of contact sports, weightlifting and isometric training.

If there is hypermobility of the joints, hanging and any stretching of the spine is prohibited.

Living in places with a hot climate.

It is worth noting that if you approach the treatment and prevention of genetic abnormalities in a comprehensive manner, the result will certainly be positive. In therapy, it is important not only to manage the patient physically and medicinally, but also to establish psychological contact with him. A huge role in the process of containing the progression of the disease is played by the patient’s willingness to strive, albeit not completely, to recover and improve the quality of his own life.

Connective tissue dysplasia is a group of clinically polymorphic pathological conditions caused by hereditary or birth defects collagen synthesis and accompanied by dysfunction of internal organs and the musculoskeletal system. Most often, connective tissue dysplasia is manifested by changes in body proportions, bone deformities, joint hypermobility, habitual dislocations, hyperelastic skin, valvular heart defects, vascular fragility, and muscle weakness. Diagnosis is based on phenotypic characteristics, biochemical parameters, and biopsy data. Treatment of connective tissue dysplasia includes exercise therapy, massage, diet, and drug therapy.

Connective tissue dysplasia is a concept that unites various diseases, caused by hereditary generalized collagenopathy and manifested by a decrease in the strength of connective tissue of all body systems. The population frequency of connective tissue dysplasia is 7-8%, but it is assumed that some of its signs and small undifferentiated forms can occur in 60-70% of the population. Connective tissue dysplasia comes to the attention of clinicians working in various medical fields - pediatrics, traumatology and orthopedics, rheumatology, cardiology, ophthalmology, gastroenterology, immunology, pulmonology, urology, etc.

Causes of connective tissue dysplasia

The development of connective tissue dysplasia is based on a defect in the synthesis or structure of collagen, protein-carbohydrate complexes, structural proteins, as well as necessary enzymes and cofactors. The direct cause of the connective tissue pathology under consideration is various types of effects on the fetus, leading to a genetically determined change in the fibrillogenesis of the extracellular matrix. Such mutagenic factors include unfavorable environmental conditions, poor nutrition and bad habits of the mother, stress, complicated pregnancy, etc. Some researchers point to the pathogenetic role of hypomagnesemia in the development of connective tissue dysplasia, based on the detection of magnesium deficiency in a spectral study of hair, blood, and oral fluid .

Collagen synthesis in the body is encoded by more than 40 genes, for which over 1,300 types of mutations have been described. This causes a variety of clinical manifestations of connective tissue dysplasia and complicates their diagnosis.

Classification of connective tissue dysplasia

Connective tissue dysplasia is divided into differentiated and undifferentiated. Differentiated dysplasias include diseases with a specific, established type of inheritance, clear clinical picture, known gene defects and biochemical disorders. The most typical representatives of this group of hereditary connective tissue diseases are Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, mucopolysaccharidoses, systemic elastosis, dysplastic scoliosis, Beals syndrome (congenital contractural arachnodactyly), etc. The group of undifferentiated connective tissue dysplasias consists of various pathologies whose phenotypic characteristics do not correspond to any of the differentiated diseases.

According to the degree of severity, the following types of connective tissue dysplasia are distinguished: minor (in the presence of 3 or more phenotypic characteristics), isolated (localized in one organ) and actually hereditary connective tissue diseases. Depending on the prevailing dysplastic stigmas, 10 phenotypic variants of connective tissue dysplasia are distinguished:

Marfan-like appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
Marfan-like phenotype (incomplete set of features of Marfan syndrome).
MASS phenotype (includes damage to the aorta, mitral valve, skeleton and skin).
Primary mitral valve prolapse (characterized by EchoCG signs of mitral prolapse, changes in the skin, skeleton, joints).
Classic Ehlers-like phenotype (incomplete set of features of Ehlers-Danlos syndrome).
Hypermobile Ehlers-like phenotype (characterized by joint hypermobility and associated complications - subluxations, dislocations, sprains, flat feet; arthralgia, bone and skeletal involvement).
Joint hypermobility is benign (includes an increased range of motion in the joints without involvement of the musculoskeletal system and arthralgia).
Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, are not enough to diagnose differentiated syndromes).
Increased dysplastic stigmatization with predominant osteoarticular and skeletal signs.
Increased dysplastic stigma with predominant visceral signs (minor anomalies of the heart or other internal organs).

Since the description of differentiated forms of connective tissue dysplasia is given in detail in the corresponding independent reviews, in what follows we will talk about its undifferentiated variants. In the case when the localization of connective tissue dysplasia is limited to one organ or system, it is isolated. If connective tissue dysplasia manifests itself phenotypically and involves at least one of the internal organs, this state considered as connective tissue dysplasia syndrome.

Symptoms of connective tissue dysplasia

External (phenotypic) signs of connective tissue dysplasia are represented by constitutional features, anomalies in the development of skeletal bones, skin, etc. Patients with connective tissue dysplasia have an asthenic constitution: tall stature, narrow shoulders, underweight. Disorders of the development of the axial skeleton can be represented by scoliosis, kyphosis, funnel-shaped or keeled deformities of the chest, juvenile osteochondrosis. Craniocephalic stigmata of connective tissue dysplasia often include dolichocephaly, malocclusion, dental anomalies, gothic palate, and nonunion of the upper lip and palate. The pathology of the osteoarticular system is characterized by O-shaped or X-shaped deformation of the limbs, syndactyly, arachnodactyly, joint hypermobility, flat feet, a tendency to habitual dislocations and subluxations, bone fractures.

On the part of the skin, there is increased extensibility (hyperelasticity) or, on the contrary, fragility and dryness of the skin. Often, stretch marks, pigment spots or foci of depigmentation, and vascular defects (telangiectasia, hemangiomas) appear on it for no apparent reason. The weakness of the muscular system with connective tissue dysplasia causes a tendency to prolapse and prolapse of internal organs, hernias, and muscular torticollis. Other external signs of connective tissue dysplasia may include microanomalies such as hypo- or hypertelorism, protruding ears, ear asymmetry, low hairline on the forehead and neck, etc.

Visceral lesions occur with the involvement of the central nervous system and autonomic nervous system, various internal organs. Neurological disorders accompanying connective tissue dysplasia are characterized by vegetative-vascular dystonia, asthenia, enuresis, chronic migraine, speech impairment, high anxiety and emotional instability. Syndrome of connective tissue dysplasia of the heart may include mitral valve prolapse, patent foramen ovale, hypoplasia of the aorta and pulmonary trunk, elongation and excessive mobility of the chordae, aneurysms coronary arteries or interatrial septum. A consequence of the weakness of the walls of venous vessels is the development of varicose veins of the lower extremities and pelvis, hemorrhoids, and varicoceles. Patients with connective tissue dysplasia are prone to arterial hypotension, arrhythmias, atrioventricular and intraventricular blocks, cardialgia, and sudden death.

Cardiac manifestations are often accompanied by bronchopulmonary syndrome, characterized by the presence of cystic hypoplasia of the lungs, bronchiectasis, bullous emphysema, and repeated spontaneous pneumothorax. Characteristic lesions of the gastrointestinal tract in the form of prolapse of internal organs, esophageal diverticula, gastroesophageal reflux, hiatal hernia. Typical manifestations of pathology of the organ of vision in connective tissue dysplasia are myopia, astigmatism, farsightedness, nystagmus, strabismus, dislocation and subluxation of the lens.

From the urinary system, nephroptosis, urinary incontinence, renal anomalies (hypoplasia, duplication, horseshoe kidney) etc. Reproductive disorders associated with connective tissue dysplasia in women can be represented by prolapse of the uterus and vagina, metro- and menorrhagia, spontaneous abortions, postpartum bleeding; Cryptorchidism is possible in men. Persons with signs of connective tissue dysplasia are prone to frequent ARVI, allergic reactions, hemorrhagic syndrome.

Diagnosis of connective tissue dysplasia

Diseases from the group of connective tissue dysplasias are not always diagnosed correctly and in a timely manner. Often, patients with certain signs of dysplasia are observed by doctors of different specialties: traumatologists, neurologists, cardiologists, pulmonologists, nephrologists, gastroenterologists, ophthalmologists, etc. Recognition of undifferentiated forms of connective tissue dysplasia is complicated by the lack of uniform diagnostic algorithms. The identification of a set of phenotypic and visceral signs has the greatest diagnostic significance. In order to detect the latter, ultrasound (EchoCG, kidney ultrasound, organ ultrasound) is widely used. abdominal cavity), endoscopic (FGDS), electrophysiological (ECG, EEG), radiological (radiography of the lungs, joints, spine, etc.) methods. Identification of characteristic multiple organ disorders, mainly from the musculoskeletal, nervous and cardiovascular systems with high degree probability indicates the presence of connective tissue dysplasia.

Further research is underway biochemical parameters blood, hemostasis system, immune status, skin biopsy is performed. As a screening diagnostic method for connective tissue dysplasia, it has been proposed to study the papillary pattern of the skin of the anterior abdominal wall: identifying an unformed type of papillary pattern serves as a marker of dysplastic disorders. Families with cases of connective tissue dysplasia are recommended to undergo medical genetic counseling.

Treatment and prognosis of connective tissue dysplasia

There is no specific treatment for connective tissue dysplasia. Patients are advised to adhere to rational regime day and nutrition, health-improving physical activity. In order to activate compensatory and adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, and osteopathy are prescribed.

In the complex of therapeutic measures, along with syndromic drug therapy, metabolic drugs (L-carnitine, coenzyme Q10), calcium and magnesium drugs, chondroprotectors, vitamin-mineral complexes, antioxidant and immunomodulating agents, herbal medicine, and psychotherapy are used.

The prognosis of connective tissue dysplasia largely depends on the severity of dysplastic disorders. In patients with isolated forms, the quality of life may not be affected. Patients with multisystem damage have an increased risk of early and severe disability, premature death, the causes of which may be ventricular fibrillation, pulmonary embolism, rupture of an aortic aneurysm, hemorrhagic stroke, severe internal bleeding, etc.

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Connective tissue dysplasia - symptoms, treatment

5.1.6 Drug therapy

Probably, many have read D. Grigorovich’s short story “The Gutta-percha Boy” or watched the film of the same name. The tragic story of a little circus performer, described in the work, not only reflected the trends of those times. The writer, perhaps without realizing it, gave a literary description of a painful complex studied by domestic scientists, including T.I. Kadurina.

Not all readers have thought about the origin of these unusual qualities the young hero and people similar to him.

Nevertheless, a set of symptoms, the leading of which is hyperflexibility, reflects the inferiority of connective tissue.

Where does amazing talent come from and at the same time a problem associated with the development and formation of a child. Unfortunately, not everything is so clear and simple.

What is dysplasia?

The concept itself is translated from Latin as “developmental disorder.” Here we are talking about a disruption in the development of the structural components of connective tissue, leading to multiple changes. First of all, to the symptoms joint-muscular system, where connective tissue elements are most widely represented.

A major role in the study of connective tissue dysplasia in the post-Soviet space was played by Tamara Kadurina, the author of a monumental and, in fact, the only guide to the problem of its inferiority.

The etiology of connective tissue dysplasia (CTD) is a disease based on a violation of the synthesis of collagen protein, which acts as a kind of framework or matrix for the formation of more highly organized elements. Collagen synthesis occurs in basic connective tissue structures, with each subtype producing its own type of collagen.

What are connective tissue structures?

It should be mentioned that connective tissue is the most represented histological structure of our body. Its diverse elements form the basis of cartilaginous, bone tissue, cells and fibers act as a scaffold in muscles, blood vessels and the nervous system.

Even blood, lymph, subcutaneous fat, iris and sclera are all connective tissue originating from an embryonic base called mesenchyme.

It is easy to assume that a violation of the formation of cells - the ancestors of all these seemingly different structures during the period of intrauterine development, will subsequently have clinical manifestations on the part of all systems and organs.

The appearance of specific changes can occur at different periods of the life of the human body.

Classification

Difficulties in diagnosis lie in the variety of clinical manifestations, which are often recorded narrow specialists as separate diagnoses. The very concept of DST is not a disease as such in the ICD. Rather, it is a group of conditions caused by a violation of the intrauterine formation of tissue elements.

Until now, there have been repeated attempts to generalize joint pathology, accompanied by multiple clinical signs from other systems.

An attempt to present connective tissue dysplasia as a series of congenital diseases that have similar features and a number of common features was made by T.I. Kadurina in 2000

Kadurina's classification divides connective tissue dysplasia syndrome into phenotypes (that is, according to external signs). This includes:

MASS phenotype (from English - mitral valve, aorta, skeleton, skin);
marfanoid;

Kadurina’s creation of this division was dictated by a large number of conditions that do not fit into the diagnoses corresponding to ICD 10.

Syndromic connective tissue dysplasias

This rightfully includes the classic Marfan and Ehlers-Danlos syndromes, which have their place in the ICD.

Marfan syndrome

The most common and widely known of this group is Marfan syndrome. This is not just a problem for orthopedists. The peculiarities of the clinic often force the child’s parents to contact cardiology. This is what the described gutta-percha corresponds to. Among other things, it is characterized by:

Tall, long limbs, arachnodactyly, scoliosis.
On the part of the organ of vision, retinal detachment, subluxation of the lens, and blue sclera are noted, and the severity of all changes can vary over a wide range.

Girls and boys get sick equally often. Almost 100% of patients have functional and anatomical changes in the heart and become patients in cardiology.

The most typical manifestation will be mitral valve prolapse, mitral regurgitation, dilation and aneurysm of the aorta with the possible formation of heart failure.

Eulers–Danlos syndrome

This is a whole group of hereditary diseases, the main clinical signs of which will also be joint laxity. To others, very frequent manifestations It is worth attributing skin vulnerability and the formation of wide atrophic scars due to the extensibility of the integument. Diagnostic signs can be:

the presence of subcutaneous connective tissue formations in people;
pain in moving joints;
frequent dislocations and subluxations.

Since this is a whole group of diseases that can be inherited, in addition to objective data, the doctor needs to clarify the family history to find out whether there are similar cases in the pedigree. Depending on the predominant and accompanying symptoms, the classic type is distinguished:

hypermobile type;
vascular type;
kyphoscoliotic type and a number of others.

Accordingly, in addition to damage to the joint-motor system, there will be phenomena of vascular weakness in the form of ruptured aneurysms, bruises, progressive scoliosis, and the formation of umbilical hernias.

Connective tissue dysplasia of the heart

The main objective clinical manifestation for diagnosing connective tissue dysplasia syndrome of the heart is prolapse (protrusion) of the mitral valve into the ventricular cavity, accompanied by auscultation of a special systolic murmur. Also in a third of cases, prolapse is accompanied by:

signs of joint hypermobility;
skin manifestations in the form of vulnerability and extensibility on the back and buttocks;
on the part of the eyes are usually present in the form of astigmatism and myopia.

The diagnosis is confirmed by traditional echocardioscopy and analysis of the totality of non-cardiac symptoms. Such children are treated in cardiology.

Other connective tissue dysplasias

It is worth dwelling separately on such a broad concept as undifferentiated connective tissue dysplasia syndrome (UCTD)

Here a general set of clinical manifestations emerges that does not fit into any of the described syndromes. External manifestations come to the fore, allowing one to suspect the presence of such problems. This looks like a set of signs of connective tissue damage, of which there are about 100 described in the literature.

A thorough examination and collection of analysis, especially information about hereditary diseases, are necessary for an accurate diagnosis.

Despite the diversity of these signs, they are united by the fact that the main mechanism of development will be a violation of collagen synthesis with the subsequent formation of pathology of the musculoskeletal system, organs of vision, and heart muscle. In total, more than 10 signs are described, some of them are considered the main ones:

Connective tissue dysplasia | tvoylechebnik.ru

Connective tissue dysplasia

Connective tissue dysplasia (CTD) is a systemic disease in which improper development of connective tissue occurs in the body, which leads to various disorders in the body. Connective tissue is found in tendons, cartilage, ligaments, muscles, skin and blood vessels. Disruption of its development begins during embryonic development, i.e. before birth, but symptoms appear in children and adolescents rather than in infancy. With age, symptoms become more severe. DST is caused by mutations in genes responsible for the production of collagen or other proteins. IN in rare cases Dysplasia can be caused by severe course pregnancy and illness of a pregnant woman.

Since connective tissue is present in many organs of the human body, the symptoms can be varied and numerous. In addition, the symptoms of the disease vary in severity and are individual for each patient. Possible violations in organism:

Excessive flexibility of joints, frequent dislocations, flat feet or club feet. Scoliosis, hyperkyphosis or hyperlordosis, irregular chest shape, osteochondrosis, herniated discs, spondylolisthesis, osteoarthritis.
Problems with the heart and blood vessels. pulmonary heart, different kinds arrhythmias, heart valve prolapse, low blood pressure, vascular aneurysms, varicose veins, spider veins, hemorrhoids.
Neurological disorders such as panic attacks, fatigue, asthenia, low performance, depression, anorexia nervosa, hypochondria.
Visual impairment: astigmatism, myopia, nystagmus, strabismus, retinal detachment, lens luxation, retinal angiopathy.
Lesions of other organs and systems of the body: problems with the lungs and bronchi (bronchitis, pneumonia), spontaneous pneumothorax, excessive mobility of the kidneys (nephroptosis) and other internal organs, gastroesophageal reflux disease, hiatal hernia.

Also possible malocclusion, asymmetrical facial features, thin and easily stretchable skin, low body weight, elongated limbs.

Treatment of connective tissue dysplasia

To diagnose dysplasia, a combination of several of the above symptoms is important. In addition, an ECG, duplex scanning of blood vessels, and pressure measurements can be performed. If relatives had similar diseases (for example, problems with blood vessels or the heart, joint hypermobility, vision problems), this also speaks in favor of the diagnosis of DST.

Treatment of DST is complex and consists not only of drug therapy, but also of diet and physiotherapeutic procedures. Non-drug therapy also includes psychotherapy, exercise therapy and a proper daily routine.

Drug therapy includes taking drugs that stimulate collagen formation, stabilize mineral metabolism and correct the synthesis of glycosaminoglycans. To stimulate the formation of collagen, vitamins (vitamin B1, B2, B6, C, P, E) and substances such as zinc oxide, zinc sulfate, copper sulfate, magnesium citrate, calcitrin, carnitine chloride, solcoseryl are prescribed. Alfacalcidol, osteogenon, ergocalciferol, and oxidevit help stabilize mineral metabolism. For the synthesis of glycosaminoglycans, chondrokid, rumalon, structum, chondroitin sulfate are prescribed.

It is also necessary to adjust the level of amino acids in the blood; for this, drugs such as glycine, methionine, glutamic acid, and retabolil are used.

Drug therapy is carried out in courses of 2 months several times a year (1-3 times) with breaks of 2-3 months. Treatment should be carried out under the supervision of a physician, since depending on the condition, adjustments to the prescribed drugs may be made. If you have heart problems, you need to do an ECG and echocardiogram every year.

Physiotherapeutic treatment is recommended between courses of drug treatment. An important point in the treatment of dysplasia is regular physical therapy. A set of exercises should be selected by a physical therapy doctor. Moderate physical activity (walking, skiing, swimming, badminton) is also useful, but not professional sports or professional dancing. They can only aggravate the condition because they give excessive load. Strength loads are also prohibited - barbells, boxing, lifting weights over 3 kg, long hikes. Avoid injuries and infectious diseases, as with dysplasia they can be more severe. If you have flat feet, you need to go to an orthopedist and get special insoles. If joint hypermobility is accompanied by joint pain, then orthoses (bandages, knee pads, elbow pads) should be worn.

Other recommended procedures are massage courses for the cervical-collar area for 15-20 sessions, ultraviolet irradiation, balneotherapy, and pine baths. It would not be a bad idea to visit a psychotherapist, due to the peculiarities of the emotional state of patients with DST. It is important to maintain the correct daily routine, sleep at least 8 hours, take a shower in the morning and do gymnastics.

The diet for dysplasia includes the consumption of foods containing a large number of proteins (fish, meat, seafood, nuts, beans, soy) and magnesium. Jellied dishes and jellied meats, broths, and hard cheeses are healthy. You can use special dietary supplements and amino acid complexes. Magnesium is necessary for the normal structure of connective tissue. An examination by a gastroenterologist is recommended. In more severe cases, motor thorax becomes evident in children and adolescents. chemical things

Patients with dysplasia should choose a job where there are no emotional stress And physical overload, interaction with chemicals. In cases spontaneous pneumothorax It is forbidden to fly, dive or use the subway, as this may cause repeated cases of pneumothorax. It is not recommended to stay in hot climates.

There are internal disorders that lead to a whole bunch of diseases in different areas - from joint diseases to intestinal problems, and connective tissue dysplasia is a prime example of them. Not every doctor is able to diagnose it, since in each case it is expressed by its own set of symptoms, so a person can unsuccessfully treat himself for years, not knowing what is happening inside him. Is this diagnosis dangerous and what measures should be taken?

What is connective tissue dysplasia

In its general sense Greek word"dysplasia" means a disorder of education or development, which can be applied to both tissues and internal organs in general. This problem is always congenital, as it appears in the prenatal period. If connective tissue dysplasia is mentioned, it means a genetically heterogeneous disease characterized by a disorder in the development of connective tissue. The problem is polymorphic in nature, mainly occurring in at a young age.

IN official medicine Pathology of connective tissue development can also be found under the names:

hereditary collagenopathy;
hypermobility syndrome.

Symptoms

The number of signs of connective tissue disorders is so great that individually a patient can associate them with any disease: the pathology affects most of the internal systems - from the nervous to the cardiovascular, and even manifests itself in the form of causeless weight loss. Often this type of dysplasia is discovered only after external changes, or diagnostic measures taken by a doctor for another purpose.

Among the most striking and frequently detected signs of connective tissue disorders are:

Autonomic dysfunction, which can manifest itself in the form of panic attacks, tachycardia, fainting, depression, and nervous exhaustion.
Problems with the heart valve, including prolapse, cardiac abnormalities, heart failure, myocardial pathologies.
Asthenization is the patient’s inability to subject himself to constant physical and mental stress, frequent psycho-emotional breakdowns.
X-shaped leg deformity.
Varicose veins, spider veins.
Hypermobility of joints.
Hyperventilation syndrome.
Frequent bloating caused by digestive disorders, pancreatic dysfunction, problems with bile production.
Pain when trying to pull back the skin.
Problems with the immune system, vision.
Mesenchymal dystrophy.
Abnormalities in jaw development (including bite).
Flat feet, frequent joint dislocations.

Doctors are confident that people who have connective tissue dysplasia have psychological disorders in 80% of cases. Light form- this is depression, constant feeling anxiety, low self-esteem, lack of ambition, dissatisfaction with the current state of affairs, reinforced by reluctance to change anything. However, even autism can coexist with the diagnosis of connective tissue dysplasia syndrome.

In children

At birth, a child may be devoid of phenotypic signs of connective tissue pathology, even if it is collagenopathy, which has clear clinical manifestations. In the postnatal period, defects in the development of connective tissue are also not excluded, so such a diagnosis is rarely made to a newborn. The situation is also complicated by the natural condition of the connective tissue for children under 5 years of age, due to which their skin stretches too much, ligaments are easily injured, and joint hypermobility is observed.

In children over 5 years old, if dysplasia is suspected, you can see:

changes in the spine (kyphosis/scoliosis);
chest deformities;
poor muscle tone;
asymmetrical blades;
malocclusion;
fragility of bone tissue;
increased flexibility of the lumbar region.

Causes

The basis for changes in connective tissue is genetic mutations, so dysplasia in all forms cannot be recognized as a disease: some of its manifestations do not worsen a person’s quality of life. Dysplastic syndrome is caused by changes in the genes that are responsible for the main protein that forms connective tissue - collagen (less often - fibrillin). If there is a failure in the formation of its fibers, they will not be able to withstand the load. Additionally, magnesium deficiency cannot be ruled out as a factor in the appearance of such dysplasia.

Classification

Doctors today have not come to a consensus regarding the classification of connective tissue dysplasia: it can be divided into groups based on the processes occurring with collagen, but this approach allows working only with hereditary dysplasia. The following classification is considered more universal:

A differentiated disorder of connective tissue, which has an alternative name – collagenopathy. Dysplasia is hereditary, the signs are clear, diagnosing the disease is not difficult.
Undifferentiated connective tissue disorder - this group includes the remaining cases that cannot be classified as differentiated dysplasia. The frequency of its diagnosis is many times higher, and in people of all ages. A person who has been diagnosed with an undifferentiated connective tissue pathology often does not need treatment, but should be under the supervision of a doctor.

Diagnostics

There are a lot of controversial issues associated with dysplasia of this kind, since specialists practice several scientific approaches in the issue of diagnosis. The only point that is beyond doubt is the need to conduct clinical and genealogical research, since connective tissue defects are congenital. Additionally, to clarify the picture, the doctor will need:

systematize patient complaints;
measure the body by segments (for connective tissue dysplasia, their length is relevant);
assess joint mobility;
have the patient try to grasp his wrist with his thumb and little finger;
perform an echocardiogram.

Analyzes

Laboratory diagnostics dysplasia of this type consists in studying a urine test for the level of hydroxyproline and glycosaminoglycans - substances that appear during the breakdown of collagen. Additionally, it makes sense to check the blood for frequent mutations in PLOD and general biochemistry (detailed analysis from a vein), metabolic processes in connective tissue, markers of hormonal and mineral metabolism.

Which doctor treats connective tissue dysplasia?

In children, the pediatrician is responsible for making a diagnosis and developing therapy (initial level), since there is no doctor who works exclusively with dysplasia. Afterwards, the scheme is the same for people of all ages: if there are several manifestations of connective tissue pathology, you will need to take a treatment plan from a cardiologist, gastroenterologist, psychotherapist, etc.

Treatment of connective tissue dysplasia

There are no ways to get rid of this diagnosis, since dysplasia of this type affects changes in genes, however, comprehensive measures can alleviate the patient’s condition if he suffers from clinical manifestations of connective tissue pathology. The most commonly practiced scheme for preventing exacerbation is:

well-chosen physical activity;
individual diet;
physiotherapy;
drug treatment;
psychiatric care.

It is recommended to resort to surgical intervention for this type of dysplasia only in case of deformation of the chest, serious disorders of the spine (especially the sacral, lumbar and cervical regions). Connective tissue dysplasia syndrome in children requires additional normalization of the daily routine, selection of constant physical activity - swimming, cycling, skiing. However, a child with such dysplasia should not be sent to professional sports.

Without the use of drugs

Doctors advise starting treatment by eliminating high physical activity and hard work, including mental work. The patient needs to undergo a course of exercise therapy annually, if possible receiving a lesson plan from a specialist and performing the same actions independently at home. Additionally, you will need to visit the hospital to undergo a set of physical procedures: ultraviolet irradiation, rubdowns, electrophoresis. It is possible that a corset will be prescribed to support the neck. Depending on the psycho-emotional state, a visit to a psychotherapist may be prescribed.

For children with this type of dysplasia, the doctor prescribes:

Massage of the limbs and back with an emphasis on cervical region. The procedure is carried out every six months, 15 sessions.
Wearing an arch support if a hallux valgus is diagnosed.

Diet

Experts recommend that the emphasis in the diet of a patient who has been diagnosed with connective tissue pathology be on protein foods, but this does not imply the complete exclusion of carbohydrates. The daily menu for dysplasia must necessarily consist of: lean fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables and unsweetened fruits. You should use small amounts of nuts in your daily diet. If necessary, a vitamin complex can be prescribed, especially for children.

Taking medications

You should take medications under the supervision of a doctor, since there is no universal pill for dysplasia and you can predict the reaction of a particular organism even to the most safe medicine it is forbidden. Therapy to improve the condition of connective tissue with dysplasia may include:

Substances that stimulate the natural production of collagen are ascorbic acid, B vitamins and sources of magnesium (Magnerot).
Medicines that normalize the level of free amino acids in the blood - Glutamic acid, Glycine.
Means that help mineral metabolism - Alfacalcidol, Osteogenon.
Preparations for the catabolism of glycosaminoglycans, mainly based on chondroitin sulfate - Rumalon, Chondroxide.

Surgical intervention

Due to the fact that this connective tissue pathology is not considered a disease, the doctor will recommend surgery if the patient suffers from deformation of the musculoskeletal system, or dysplasia can lead to fatal outcome due to problems with blood vessels. In children, surgical intervention is practiced less frequently than in adults; doctors try to make do with manual therapy.

Video

Causes and risk factors

Currently, the main causes of DST include changes in the rate of synthesis and assembly of collagen and elastin, the synthesis of immature collagen, and disruption of the structure of collagen and elastin fibers due to their insufficient cross-linking.

This indicates that in DST, connective tissue defects in their manifestations are very diverse.

The basis of these morphological disorders are hereditary or congenital mutations of genes directly encoding connective tissue structures, enzymes and their cofactors, as well as unfavorable environmental factors.

IN last years Particular attention is drawn to the pathogenetic significance of dyselementosis, in particular hypomagnesemia.

In other words, DST is a multi-level process, since it can manifest itself at the gene level, at the level of imbalance of enzymatic and protein metabolism, as well as at the level of disruption of the homeostasis of individual macro- and microelements.

Such disruption of tissue formation can occur both during pregnancy and after the birth of a child. TO immediate reasons Scientists attribute the development of such changes in the fetus to a number of genetically determined mutations that affect the formation of extracellular matrix fibrils.

The most common mutagenic factors today include:

bad habits;
poor environmental situation;
errors in nutrition;
toxicosis of pregnant women;
intoxication;
stress;
magnesium deficiency and much more.

The causes of the disease are varied; they can be divided into 2 main groups: hereditary and acquired.

A genetically determined disorder in the structure of connective tissue occurs due to the inheritance (often in an autosomal dominant manner) of mutant genes responsible for encoding the formation and spatial orientation of thin fibrous structures, protein-carbohydrate compounds and enzymes.

Acquired connective tissue dysplasia is formed at the stage of intrauterine development and is a consequence of exposure to such factors during pregnancy:

transferred in the first trimester viral infections(ARVI, influenza, rubella);
severe toxicosis, gestosis;
chronic infectious diseases genitourinary area expectant mother;
taking certain medications during pregnancy;
unfavorable environmental conditions;
industrial hazards;
exposure to ionizing radiation.

The direct cause of the connective tissue pathology under consideration is various types of effects on the fetus, leading to a genetically determined change in the fibrillogenesis of the extracellular matrix.

Such mutagenic factors include unfavorable environmental conditions, poor nutrition and bad habits of the mother, stress, complicated pregnancy, etc.

Some researchers point to the pathogenetic role of hypomagnesemia in the development of connective tissue dysplasia, based on the detection of magnesium deficiency in spectral studies of hair, blood, and oral fluid.

Collagen synthesis in the body is encoded by more than 40 genes, for which over 1,300 types of mutations have been described. This causes a variety of clinical manifestations of connective tissue dysplasia and complicates their diagnosis.

Classification of connective tissue dysplasia

Hereditary connective tissue diseases are divided into:

Differentiated dysplasia (DD),
Undifferentiated dysplasia (UD).

Differentiated dysplasia is characterized a certain type inheritance, having a pronounced clinical picture, and often also established and well-studied biochemical or gene defects.

Diseases of this type of dysplasia are called collagenopathies because they are hereditary collagen diseases.

This group includes:

Marfan syndrome is the most common and widely known of this group. It is precisely this that corresponds to the gutta-percha described in fiction (D. V. Grigorovich “The Gutta-percha Boy”).
Among other things, this syndrome is characterized by:
- Tall, long limbs, arachnodactyly, scoliosis.
- On the part of the organ of vision, retinal detachment, subluxation of the lens, and blue sclera are noted, and the severity of all changes can vary over a wide range.
Girls and boys get sick equally often. Almost 100% of patients have functional and anatomical changes in the heart and become patients in cardiology.

The most characteristic manifestation will be mitral valve prolapse, mitral regurgitation, dilatation and aneurysm of the aorta with the possible formation of heart failure.
Loose skin syndrome - rare disease connective tissue, in which the skin easily stretches and forms loose folds. In lax skin syndrome, the elastic fibers are mainly affected. The disease is usually hereditary; in rare cases and for unknown reasons, it develops in people with no precedent in the family.
Eulers-Danlos syndrome is a whole group of hereditary diseases, the main clinical signs of which will also be joint laxity. Other very common manifestations include skin vulnerability and the formation of wide atrophic scars due to the extensibility of the integument.
Diagnostic signs may be:
- the presence of subcutaneous connective tissue formations in people;
- pain in moving joints;
- frequent dislocations and subluxations.
Osteogenesis imperfecta is a group of genetically determined diseases, which are based on a violation of the formation of bone tissue. As a result, bone density is sharply reduced, which leads to frequent fractures, impaired growth and posture, the development of characteristic disabling deformities and related problems, including respiratory, neurological, cardiac, renal disorders, hearing loss, etc.
In some types and subtypes, dentinogenesis imperfecta is also noted - a violation of the formation of teeth. In addition, discoloration of the whites of the eyes, the so-called “blue sclera,” is often observed.

The most typical representatives of this group of hereditary connective tissue diseases are Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta, mucopolysaccharidoses, systemic elastosis, dysplastic scoliosis, Beals syndrome (congenital contracture arachnodactyly), etc.

The group of undifferentiated connective tissue dysplasias consists of various pathologies whose phenotypic characteristics do not correspond to any of the differentiated diseases.

Marfan-like appearance (includes 4 or more phenotypic signs of skeletal dysplasia).
Marfan-like phenotype (incomplete set of features of Marfan syndrome).
MASS phenotype (includes damage to the aorta, mitral valve, skeleton and skin).
Primary mitral valve prolapse(characterized by EchoCG signs of mitral prolapse, changes in the skin, skeleton, joints).
Classic Ehlers-like phenotype (incomplete set of features of Ehlers-Danlos syndrome).
Hypermobile Ehlers-like phenotype (characterized by joint hypermobility and associated complications - subluxations, dislocations, sprains, flat feet; arthralgia, bone and skeletal involvement).
Joint hypermobility is benign (includes an increased range of motion in the joints without involvement of the musculoskeletal system and arthralgia).
Undifferentiated connective tissue dysplasia (includes 6 or more dysplastic stigmas, which, however, are not enough to diagnose differentiated syndromes).
Increased dysplastic stigmatization with predominant osteoarticular and skeletal signs.
Increased dysplastic stigma with predominant visceral signs (minor anomalies of the heart or other internal organs).

Since the description of differentiated forms of connective tissue dysplasia is given in detail in the corresponding independent reviews, in what follows we will talk about its undifferentiated variants.

In the case when the localization of connective tissue dysplasia is limited to one organ or system, it is isolated. If connective tissue dysplasia manifests itself phenotypically and involves at least one of the internal organs, this condition is considered as connective tissue dysplasia syndrome.

Stages of the disease

Many studies indicate the staging of the onset of symptoms of dysplasia at different age periods:

during the neonatal period, the presence of connective tissue pathology is most often indicated by low weight, insufficient body length, thin and long limbs, feet, hands, fingers;
in early childhood (5-7 years), the disease manifests itself as scoliosis, flat feet, excessive range of motion in the joints, keeled or funnel-shaped deformity of the chest;
In school-age children, connective tissue dysplasia is manifested by valve prolapse, myopia (myopia), dysplasia of the dentofacial apparatus; the peak diagnosis of the disease occurs precisely in this age period.

Signs of connective tissue dysplasia

Despite all the variety of signs of undifferentiated connective tissue dysplasia, they are united by the fact that the main mechanism of development will be a violation of collagen synthesis with the subsequent formation of pathology of the musculoskeletal system, organs of vision, and heart muscle.

The following signs are considered the main ones:

joint hypermobility;
high skin elasticity;
skeletal deformities;
malocclusion;
flat foot;
vascular network.

Minor signs include, for example, anomalies of the ears, teeth, hernia, etc. There is, as a rule, no clear heredity, but a family history may include osteochondrosis, flat feet, scoliosis, arthrosis, pathology of the organ of vision, etc.

External signs are divided into:

skeletal,
skin,
articular,
minor developmental anomalies.

Internal signs include dysplastic changes in the nervous system, visual analyzer, cardiovascular system, respiratory system, and abdominal cavity.

It is noted that vegetative dystonia (VD) syndrome is one of the first to form and is an obligatory component of DST. Symptoms of autonomic dysfunction are observed already at an early age, and in adolescence observed in 78% of cases of UCTD.

The severity of autonomic dysregulation increases in parallel with the clinical manifestations of dysplasia.

In the formation of vegetative shifts in DST, both genetic factors underlying the disruption of biochemical processes in connective tissue and the formation of abnormal connective tissue structures are important, which together changes the functional state of the hypothalamus and leads to autonomic imbalance.

Features of DST include the absence or weak expression of phenotypic signs of dysplasia at birth, even in cases of differentiated forms. In children with a genetically determined condition, markers of dysplasia appear gradually throughout life.

Over the years, especially under unfavorable conditions (ecological conditions, nutrition, frequent intercurrent diseases, stress), the number of dysplastic signs and the degree of their severity progressively increase, since the initial changes in homeostasis are aggravated by these environmental factors.

Symptoms of connective tissue dysplasia

All symptoms can be divided into external manifestations and signs of damage to internal organs (visceral).

External manifestations of connective tissue dysplasia:

low body weight;
tendency to increase the length of tubular bones;
curvature of the spinal column in various parts (scoliosis, hyperkyphosis, hyperlordosis);
asthenic physique;
changed shape of the chest;
deformation of the fingers, violation of the ratio of their lengths, overlap of the toes;
symptoms of the thumb, wrist joint;
congenital absence of the xiphoid process of the sternum;
deformation of the lower extremities (X- or O-shaped curvatures, flat feet, clubfoot);
pterygoid blades;
various changes posture;
hernias and protrusions of intervertebral discs, instability of the vertebrae in various parts, displacement of the structures of the spinal column relative to each other;
thinning, pallor, dryness and superelasticity of the skin, their increased tendency to injury, positive symptoms of a tourniquet, pinching, possible appearance of areas of atrophy;
multiple moles, telangiectasias (spider veins), hypertrichosis, birthmarks, increased fragility of hair and nails, clearly visible vascular network;
articular syndrome – excessive range of motion in symmetrical (usually) joints, increased tendency of the articular system to injury.

In addition to the above external manifestations, connective tissue dysplasia is characterized by minor developmental anomalies, or so-called stigmata (stigmas) of dysembryogenesis:

External (phenotypic) signs of connective tissue dysplasia are represented by constitutional features, anomalies in the development of skeletal bones, skin, etc. Patients with connective tissue dysplasia have an asthenic constitution: tall stature, narrow shoulders, underweight. Disturbances in the development of the axial skeleton can be represented by scoliosis, kyphosis, funnel-shaped or keeled deformities of the chest, juvenile osteochondrosis. Craniocephalic stigmata of connective tissue dysplasia often include dolichocephaly, malocclusion, dental anomalies, gothic palate, and nonunion of the upper lip and palate. The pathology of the osteoarticular system is characterized by O-shaped or X-shaped deformation of the limbs, syndactyly, arachnodactyly, joint hypermobility, flat feet, a tendency to habitual dislocations and subluxations, and bone fractures.

Diagnosis of pathology

An accurate diagnosis requires a thorough examination and collection of analysis, especially information about hereditary diseases.

The manifestations of dysplasia syndrome are so diverse that it can be very difficult to make a timely and correct diagnosis. To do this, it is necessary to conduct a number of laboratory diagnostic tests, ultrasound echography (US), magnetic resonance imaging (MRI) and computed tomography(CT), conduct a study of electrical activity of muscles (electromyography), X-ray examination of bones, etc.

The basis for the correct diagnosis of connective tissue dysplasia is a careful collection of anamnestic data and a comprehensive examination of the patient:

detection of hydroxyproline and glycosaminoglycans in blood and urine tests;
immunological analysis for determination of C- and N-terminal telopeptides in blood and urine;
indirect immunofluorescence with polyclonal antibodies to fibronectin, different fractions of collagen;
determination of the activity of the bone isoform of alkaline phosphatase and osteocalcin in blood serum (assessment of the intensity of osteogenesis);
study of HLA histocompatibility antigens;
Ultrasound of the heart, neck vessels and abdominal organs;
bronchoscopy;
FGDS.

Treatment

Modern medicine uses many various methods treatment of dysplasia syndrome depending on its manifestations, but all of them, as a rule, come down to symptomatic drug or surgical treatment. Undifferentiated connective tissue dysplasia is the most difficult to treat, due to ambiguous clinical symptoms and the lack of clear diagnostic criteria.

Drug treatment includes the use of magnesium drugs, cardiotrophic, antiarrhythmic, vegetotropic, nootropic, vasoactive drugs, beta-blockers.

Drug treatment is of a replacement nature. The purpose of using drugs in this situation is to stimulate the synthesis of your own collagen.

For this, glucosamine and chondroitin sulfate are used. To improve the absorption of phosphorus and calcium needed by bones and joints, it is prescribed active forms vitamin D

Treatment requires an integrated approach, including:

Medicinal methods based on the use of drugs that stimulate collagen formation. These drugs include: ascorbic acid, chondroitin sulfate (a drug of mucopolysaccharide nature), vitamins and microelements.
Non-drug methods, which include the help of a psychologist, individualization of the daily routine, physical therapy, massage, physiotherapeutic procedures, acupuncture, balneotherapy, and diet therapy.

The main focus in the treatment of dysplasia syndrome with kinesitherapy is on strengthening, maintaining muscle tone and balance of the musculoskeletal system, preventing the development of irreversible changes, and restoring normal function internal organs and musculoskeletal system, improving the quality of life.

Treatment of connective tissue dysplasia in children is usually carried out using a conservative method. With the help of B vitamins and ascorbic acid, collagen synthesis can be stimulated, which will slow down the development of the disease.

Daily routine: night sleep should be at least 8-9 hours; some children are also advised to nap. It is necessary to do morning exercises every day.

If there are no restrictions on playing sports, then you need to do them all your life, but under no circumstances professional sports. Children with hypermobility of joints involved in professional sports develop degenerative-dystrophic changes in cartilage and ligaments very early.

This is due to constant traumatization, micro-effusions, which lead to chronic aseptic inflammation and dystrophic processes.

Therapeutic swimming, skiing, cycling, walking up hills and stairs, badminton, and wushu gymnastics have a good effect. Dosed walking is effective. Regular exercise increases the body's adaptive capabilities.

Quite often, the manifestations of the disease are mild, are rather cosmetic in nature and do not require special drug correction.

In this case, an adequate, dosed regimen of physical activity, adherence to a regimen of activity and rest, and a fully fortified, protein-rich diet are indicated.

If drug correction is necessary (stimulation of collagen synthesis, bioenergetics of organs and tissues, normalization of glycosaminoglycan levels and mineral metabolism), medications of the following groups are prescribed:

vitamin and mineral complexes;
chondroprotectors;
stabilizers of mineral metabolism;
amino acid preparations;
metabolic agents.

There is no specific treatment for connective tissue dysplasia. Patients are advised to adhere to a rational daily regimen, nutrition, and health-improving physical activity. In order to activate compensatory and adaptive capabilities, courses of exercise therapy, massage, balneotherapy, physiotherapy, acupuncture, and osteopathy are prescribed.

The prognosis of connective tissue dysplasia largely depends on the severity of dysplastic disorders. In patients with isolated forms, the quality of life may not be affected.

Patients with multisystem damage have an increased risk of early and severe disability, premature death, the causes of which may be ventricular fibrillation, pulmonary embolism, rupture of an aortic aneurysm, hemorrhagic stroke, severe internal bleeding, etc.

Possible complications and consequences

Complications of connective tissue dysplasia:

traumatization;
decreased quality of life with high organ involvement and systemic lesions;
association with somatic pathology.

megan92 () 2 weeks ago

Tell me, how does anyone deal with joint pain? My knees hurt terribly ((I take painkillers, but I understand that I am fighting the effect, not the cause...

Daria () 2 weeks ago

I struggled with my painful joints for several years until I read this article by some Chinese doctor. And I forgot about “incurable” joints a long time ago. So it goes

megan92 () 13 days ago

Daria () 12 days ago

megan92, that’s what I wrote in my first comment) I’ll duplicate it just in case - link to professor's article.

Sonya 10 days ago

Isn't this a scam? Why do they sell on the Internet?

julek26 (Tver) 10 days ago

Sonya, what country do you live in?.. They sell it on the Internet because stores and pharmacies charge a brutal markup. In addition, payment is only after receipt, that is, they first looked, checked and only then paid. And now they sell everything on the Internet - from clothes to TVs and furniture.

Editor's response 10 days ago

Sonya, hello. This drug for the treatment of joints is indeed not sold through the pharmacy chain in order to avoid inflated prices. Currently you can only order from Official website. Be healthy!

Sonya 10 days ago

I apologize, I didn’t notice the information about cash on delivery at first. Then everything is fine if payment is made upon receipt. Thank you!!

Margo (Ulyanovsk) 8 days ago

Has anyone tried it? traditional methods joint treatment? Grandma doesn’t trust pills, the poor thing is in pain...

Andrey A week ago

No matter what folk remedies I tried, nothing helped...

Ekaterina A week ago

I tried drinking a decoction of bay leaves, it didn’t do any good, I just ruined my stomach!! I no longer believe in these folk methods...

Maria 5 days ago

I recently watched a program on Channel One, it was also about this Federal program to combat joint diseases talked. It is also headed by some famous Chinese professor. They say that they have found a way to permanently cure joints and backs, and the state fully finances the treatment for each patient.

Connective tissue dysplasia (CTD) (dis - disorders, plasia - development, formation) is a disorder of the development of connective tissue in the embryonic and postnatal periods, a genetically determined condition characterized by defects in the fibrous structures and the main substance of the connective tissue, leading to a disorder of homeostasis in the tissue, organ and organismal levels in the form of various morphofunctional disorders of visceral and locomotor organs with a progressive course, which determines the characteristics of the associated pathology, as well as the pharmacokinetics and pharmacodynamics of drugs.

Data on the prevalence of DST itself are contradictory, which is due to different classification and diagnostic approaches. The prevalence of individual signs of CTD has gender and age differences. According to the most conservative data, the prevalence rates of CTD are at least comparable to the prevalence of major socially significant non-communicable diseases.

DST is morphologically characterized by changes in collagen, elastic fibrils, glycoproteins, proteoglycans and fibroblasts, which are based on inherited mutations of genes encoding the synthesis and spatial organization of collagen, structural proteins and protein-carbohydrate complexes, as well as mutations in the genes of enzymes and cofactors for them. Some researchers, based on the magnesium deficiency detected in 46.6-72.0% of cases of DST in various substrates (hair, red blood cells, oral fluid), assume the pathogenetic significance of hypomagnesemia.

One of the fundamental characteristics of connective tissue dysplasia as a dysmorphogenetic phenomenon is that the phenotypic signs of CTD may be absent at birth or have very slight severity (even in cases of differentiated forms of CTD) and, like the image on photographic paper, appear throughout life. Over the years, the number of signs of DST and their severity increases progressively.

The classification of DST is one of the most controversial scientific issues. The absence of a single generally accepted classification DST reflects the disagreement of opinions of researchers on this issue as a whole. DST can be classified based on a genetic defect in the synthesis, maturation or breakdown of collagen. This is a promising classification approach that makes it possible to substantiate the genetically differentiated diagnosis of CTD, but to date this approach is limited to hereditary CTD syndromes.

T.I. Kadurina (2000) distinguishes the MASS phenotype, marfanoid and Ehlers-like phenotypes, noting that these three phenotypes are the most common forms of non-syndromic CTD. This proposal is very tempting because of its simplicity and the underlying idea that nonsyndromic forms of CTD are “phenotypic” copies of known syndromes. Thus, the “marfanoid phenotype” is characterized by a combination of “signs of generalized connective tissue dysplasia with an asthenic physique, dolichostenomelia, arachnodactyly, damage to the valvular apparatus of the heart (and sometimes the aorta), and visual impairment.” With the “Ehlers-like phenotype,” there is a “combination of signs of generalized connective tissue dysplasia with a tendency to hyperextensibility of the skin and to varying degrees severity of joint hypermobility." The “MASS-like phenotype” is characterized by “signs of generalized connective tissue dysplasia, a number of cardiac disorders, skeletal abnormalities, as well as skin changes in the form of thinning or the presence of areas of subatrophy.” Based on this classification, it is proposed to formulate a diagnosis of DST.

Considering that the classification of any pathology has an important “applied” meaning - it is used as a basis for formulating a diagnosis, solving classification issues is very important from the point of view of clinical practice.

There are no universal pathological damage to connective tissue that would create a specific phenotype. Each defect in each patient is unique in its own way. At the same time, the comprehensive distribution of connective tissue in the body determines the multiorgan nature of lesions in DST. In this regard, a classification approach is proposed with the isolation of syndromes associated with dysplastic changes and pathological conditions.

Neurological impairment syndrome: autonomic dysfunction syndrome (vegetative-vascular dystonia, panic attacks, etc.), hemicrania.

Autonomic dysfunction syndrome develops in a significant number of patients with DST one of the very first - already in early childhood and is considered as an obligatory component of the dysplastic phenotype. In most patients, sympathicotonia is detected, a mixed form is less common, and in a small percentage of cases - vagotonia. The severity of the clinical manifestations of the syndrome increases in parallel with the severity of DST. Autonomic dysfunction is observed in 97% of cases hereditary syndromes, with an undifferentiated form of DST - in 78% of patients. In the formation of autonomic disorders in patients with DST, genetic factors undoubtedly play a role, underlying the disruption of the biochemistry of metabolic processes in connective tissue and the formation of morphological substrates, leading to changes in the function of the hypothalamus, pituitary gland, gonads, and sympathetic-adrenal system.

Asthenic syndrome: decreased performance, deterioration of tolerance to physical and psycho-emotional stress, increased fatigue.

Asthenic syndrome is detected in preschool and especially clearly in school, adolescence and young adulthood, accompanying patients with DST throughout their lives. There is a dependence of the severity of clinical manifestations of asthenia on the age of the patients: the older the patients, the more subjective complaints.

Valve syndrome: isolated and combined heart valve prolapses, myxomatous valve degeneration.

More often it is represented by mitral valve prolapse (MVP) (up to 70%), less often - prolapse of the tricuspid or aortic valves, enlargement of the aortic root and pulmonary trunk; aneurysms of the sinuses of Valsalva. In some cases, the identified changes are accompanied by regurgitation phenomena, which is reflected in the indicators of myocardial contractility and volumetric parameters of the heart. Durlach J. (1994) suggested that the cause of MVP in DST may be magnesium deficiency.

Valve syndrome also begins to form in childhood (4-5 years). Auscultatory signs of MVP are detected at different ages: from 4 to 34 years, but most often at the age of 12-14 years. It should be noted that echocardiographic data are in a dynamic state: more pronounced changes are noted during subsequent examinations, which reflects the influence of age on the condition of the valve apparatus. In addition, the severity of DST and the volume of the ventricles influence the severity of valvular changes.

Thoradiaphragmatic syndrome: asthenic shape of the chest, chest deformities (funnel-shaped, keeled), spinal deformities (scoliosis, kyphoscoliosis, hyperkyphosis, hyperlordosis, etc.), changes in standing and excursion of the diaphragm.

Among patients with DST, the most common deformity of the pectus excavatum is the funnel chest deformity, the second most common is the keeled deformity, and the most rare is the asthenic form of the chest.

The formation of thoracodiaphragmatic syndrome begins in early school age, distinctness of manifestations - at the age of 10-12 years, maximum severity - for the period of 14-15 years. In all cases, funnel-shaped deformity is noted by doctors and parents 2-3 years earlier than keeled.

The presence of thoracodiaphragmatic syndrome determines a decrease in the respiratory surface of the lungs, deformation of the lumen of the trachea and bronchi; displacement and rotation of the heart, “torsion” of the main vascular trunks. Qualitative (variant of deformation) and quantitative (degree of deformation) characteristics of thoracodiaphragmatic syndrome determine the nature and severity of changes in the morphofunctional parameters of the heart and lungs. Deformations of the sternum, ribs, spine and the associated high position of the diaphragm lead to a decrease in the thoracic cavity, an increase in intrathoracic pressure, disrupt the flow and outflow of blood, and contribute to the occurrence of cardiac arrhythmias. The presence of thoradiaphragmatic syndrome may lead to an increase in pressure in the pulmonary circulation system.

Vascular syndrome: damage to elastic arteries: idiopathic expansion of the wall with the formation of a saccular aneurysm; damage to arteries of muscular and mixed types: bifurcation-hemodynamic aneurysms, dolichoectasia of elongated and local dilations of arteries, pathological tortuosity up to loop formation; damage to the veins (pathological tortuosity, varicose veins of the upper and lower extremities, hemorrhoidal and other veins); telangiectasia; endothelial dysfunction.

Vascular changes are accompanied by an increase in tone in the system of large, small arteries and arterioles, a decrease in the volume and rate of filling of the arterial bed, a decrease in venous tone and excessive deposition of blood in the peripheral veins.

Vascular syndrome, as a rule, manifests itself in adolescence and young adulthood, progressing with increasing age of patients.

Changes blood pressure: idiopathic arterial hypotension.

Thoradiaphragmatic heart: asthenic, constrictive, pseudostenotic, pseudodilation variants, thoradiaphragmatic cor pulmonale.

The formation of the thoradiaphragmatic heart occurs in parallel with the manifestation and progression of deformation of the chest and spine, against the background of valvular and vascular syndromes. Variants of the thoradiaphragmatic heart reflect a violation of the harmonious relationship between the weight and volume of the heart, the weight and volume of the whole body, the volume of the heart and the volume of large arterial trunks against the background of dysplastic-dependent disorganization of the growth of the tissue structures of the myocardium itself, in particular, its muscle and nerve elements.

In patients with a typical asthenic constitution, asthenic variant of the thoradiaphragmatic heart, characterized by a decrease in the size of the heart chambers with “normal” systolic and diastolic thickness of the walls and interventricular septum, “normal” indicators of myocardial mass - the formation of a true small heart. The contractile process in this situation is accompanied by an increase in circular stress and intramyocardial tension in the circular direction during systole, which indicated the hyperreactivity of compensatory mechanisms against the background of prevailing sympathetic influences. It has been established that the determining factors in changes in the morphometric, volumetric, contractile and phase parameters of the heart are the shape of the chest and the level physical development musculoskeletal system.

In some patients with a pronounced form of CTD and various variants of chest deformation (funnel-shaped deformity of the I, II degree) in conditions of a decrease in the volume of the chest cavity, a “pericarditis-like” situation with the development of dysplastic-dependent constrictive heart. A decrease in the maximum size of the heart with a change in the geometry of the cavities is hemodynamically unfavorable, accompanied by a decrease in the thickness of the myocardial walls in systole. As the stroke volume of the heart decreases, a compensatory increase in total peripheral resistance occurs.

In a number of patients with chest deformity (funnel-shaped deformity of the third degree, keeled deformity), when the heart is displaced, when it “moves away” from the mechanical effects of the chest bone, rotating and accompanied by “torsion” of the main vascular trunks, the formation of false stenotic variant of the thoradiaphragmatic heart. “Stenosis syndrome” of the ventricular outlet is accompanied by an increase in the tension of myocardial structures in the meridional and circular directions, an increase in the systolic tension of the myocardial wall with increasing duration preparatory period to expulsion, increasing pressure in the pulmonary artery.

In patients with stage 2 and 3 keeled chest deformities, an enlargement of the aorta and pulmonary arteries is detected, which is associated with a decrease in vascular elasticity and depends on the severity of the deformity. Changes in the geometry of the heart are characterized by a compensatory increase in the size of the left ventricle in diastole or systole, as a result of which the cavity acquires a spherical shape. Similar processes are observed from the right side of the heart and the mouth of the pulmonary artery. Formed pseudodilation variant of the thoradiaphragmatic heart.

In the group of patients with differentiated CTD (Marfan, Ehlers-Danlos, Stickler, osteogenesis imperfecta syndromes), as well as in patients with undifferentiated CTD who have a combination of severe deformities of the chest and spine, the morphometric changes in the right and left ventricles of the heart coincide: the long axis and the area of the ventricular cavities, especially at the end of diastole, reflecting a decrease in myocardial contractility; end- and mid-diastolic volumes decrease. There is a compensatory decrease in total peripheral vascular resistance, depending on the degree of decrease in myocardial contractility and the severity of deformities of the chest and spine. The steady increase in pulmonary vascular resistance leads in this case to the formation thoradiaphragmatic pulmonary heart.

Metabolic cardiomyopathy: cardialgia, cardiac arrhythmias, disturbances of repolarization processes (I degree: increase in T V2-V3 amplitude, T V2 > T V3 syndrome; II degree: T inversion, downward displacement of ST V2-V3 by 0.5-1.0 mm ; III degree: T inversion, oblique ST shift up to 2.0 mm).

The development of metabolic cardiomyopathy is determined by the influence of cardiac factors (valvular syndrome, variants of the thoracodiaphragmatic heart) and extracardiac conditions (thoracodiaphragmatic syndrome, autonomic dysfunction syndrome, vascular syndrome, deficiency of micro- and macroelements). Cardiomyopathy in DST does not have specific subjective symptoms and clinical manifestations, however, it potentially determines an increased risk of sudden death at a young age with a predominant role in the thanatogenesis of arrhythmic syndrome.

Arrhythmic syndrome: ventricular extrasystole of various gradations; multifocal, monomorphic, less often polymorphic, monofocal atrial extrasystole; paroxysmal tachyarrhythmias; pacemaker migration; atrioventricular and intraventricular blocks; anomalies in impulse conduction along additional pathways; ventricular preexcitation syndrome; long QT interval syndrome.

The detection rate of arrhythmic syndrome is about 64%. The source of cardiac arrhythmia may be a focus of impaired metabolism in the myocardium. When the structure and function of connective tissue is disrupted, a similar substrate of biochemical origin is always present. The cause of heart rhythm disturbances in DST may be valvular syndrome. The occurrence of arrhythmias in this case may be due to the strong tension of the mitral valves, which contain muscle fibers capable of diastolic depolarization with the formation of bioelectrical instability of the myocardium. In addition, the appearance of arrhythmias can be facilitated by a sharp discharge of blood into the left ventricle with prolonged diastolic depolarization. Changes in the geometry of the heart chambers may also be important in the occurrence of arrhythmias during the formation of a dysplastic heart, especially the thoradiaphragmatic variant of the pulmonary heart. In addition to cardiac causes of the origin of arrhythmias in DST, there are also extracardiac ones, caused by a violation of the functional state of the sympathetic and vagus nerve, mechanical irritation of the cardiac membrane by the deformed bone of the chest. One of the arrhythmogenic factors may be magnesium deficiency, detected in patients with CTD. Previous studies by Russian and foreign authors have obtained convincing data on the causal relationship between ventricular and atrial arrhythmias and intracellular magnesium content. It has been suggested that hypomagnesemia may contribute to the development of hypokalemia. At the same time, the resting membrane potential increases, the processes of depolarization and repolarization are disrupted, and cell excitability decreases. The conduction of the electrical impulse slows down, which contributes to the development of arrhythmias. On the other hand, intracellular magnesium deficiency increases the activity of the sinus node, reduces absolute and prolongs relative refractoriness.

Sudden death syndrome: changes in the cardiovascular system during DST, which determine the pathogenesis of sudden death - valvular, vascular, arrhythmic syndromes. According to observations, in all cases the cause of death is directly or indirectly related to morphofunctional changes in the heart and blood vessels: in some cases it is due to gross vascular pathology, which is easy to ascertain at autopsy (ruptures of aortic aneurysms, cerebral arteries, etc.), in other cases, sudden death is caused by factors that are difficult to verify on the dissection table (arrhythmic death).

Bronchopulmonary syndrome: tracheobronchial dyskinesia, tracheobronchomalacia, tracheobronchomegaly, ventilation disorders (obstructive, restrictive, mixed disorders), spontaneous pneumothorax.

Modern authors describe bronchopulmonary disorders in DST as genetically determined disorders of architectonics lung tissue in the form of destruction of the interalveolar septa and underdevelopment of elastic and muscle fibers in the small bronchi and bronchioles, leading to increased distensibility and reduced elasticity of the lung tissue. It should be noted that according to the classification of respiratory diseases in children, adopted at the Meeting of Pediatric Pulmonologists of the Russian Federation (Moscow, 1995), such “special” cases of respiratory diseases as tracheobronchomegaly, tracheobronchomalacia, bronchiectatic emphysema, as well as Williams-Campbell syndrome, today are interpreted as malformations of the trachea, bronchi, and lungs.

Changing Functional Parameters respiratory system with DST depends on the presence and degree of deformation of the chest, spine and is more often characterized restrictive type ventilation disorders with a decrease in total lung capacity (TLC). The residual lung volume (RLV) in many patients with DST does not change or increases slightly without changing the ratio of forced expiratory volume in the first second (FEV1) and forced vital capacity lungs (FVC). Some patients exhibit obstructive disorders, the phenomenon of bronchial hyperreactivity, which has not yet found a clear explanation. Patients with DST represent a group with high risk the occurrence of associated pathology, in particular pulmonary tuberculosis.

Immunological disorder syndrome: immunodeficiency syndrome, autoimmune syndrome, allergic syndrome.

The functional state of the immune system in DST is characterized by both activation of immune mechanisms that ensure the maintenance of homeostasis, and their insufficiency, leading to impaired ability to adequately rid the body of foreign particles and, consequently, to the development of recurrent infectious and inflammatory diseases of the bronchopulmonary system. Immunological disorders in some patients with DST include an increase in the level of immunoglobulin E in the blood. In general, the literature data on disorders in the immune system in various clinical variants of DST are ambiguous, often contradictory, which requires further study. The formation mechanisms still remain virtually unexplored immune disorders with DST. The presence of immune disorders accompanying bronchopulmonary and visceral syndromes of DST increases the risk of associated pathology of the corresponding organs and systems.

Visceral syndrome: nephroptosis and dystopia of the kidneys, ptosis of the gastrointestinal tract, pelvic organs, dyskinesia of the gastrointestinal tract, duodenogastric and gastroesophageal reflux, sphincter failure, esophageal diverticula, hiatal hernia; ptosis of the genital organs in women.

Syndrome of the pathology of the organ of vision: myopia, astigmatism, hypermetropia, strabismus, nystagmus, retinal detachment, dislocation and subluxation of the lens.

Accommodation disorders manifest themselves in different periods life, in the majority of those examined - during school years (8-15 years) and progresses until 20-25 years.

Hemorrhagic hematomesenchymal dysplasias: hemoglobinopathies, Randu-Osler-Weber syndrome, recurrent hemorrhagic (hereditary platelet dysfunction, von Willebrand syndrome, combined variants) and thrombotic (platelet hyperaggregation, primary antiphospholipid syndrome, hyperhomocysteinemia, factor Va resistance to activated protein C) syndromes.

Foot pathology syndrome: clubfoot, flatfoot (longitudinal, transverse), hollow foot.

Foot pathology syndrome is one of the earliest manifestations of failure of connective tissue structures. The most common is a transversely spread foot (transverse flatfoot), in some cases combined with deviation of 1 toe outward (hallus valgus) and longitudinal flatfoot with pronation of the foot (planovalgus foot). The presence of foot pathology syndrome further reduces the possibility of physical development of patients with CTD, forms a certain stereotype of life, and aggravates psychosocial problems.

Joint hypermobility syndrome: joint instability, dislocations and subluxations of joints.

Joint hypermobility syndrome in most cases is detected in early childhood. Maximum joint hypermobility is observed at the age of 13-14 years; by 25-30 years, the prevalence decreases by 3-5 times. The incidence of joint hypermobility is significantly higher among patients with severe DST.

Vertebrogenic syndrome: juvenile osteochondrosis of the spine, instability, intervertebral hernia, vertebrobasilar insufficiency; spondylolisthesis.

Developing in parallel with the development of thoracodiaphragmatic syndrome and hypermobility syndrome, vertebrogenic syndrome significantly aggravates their consequences.

Cosmetic syndrome: dysplastic-dependent dysmorphia maxillofacial area(malocclusions, gothic palate, pronounced facial asymmetries); O- and X-shaped deformities of the limbs; changes in the skin (thin translucent and easily vulnerable skin, increased skin extensibility, “tissue paper” suture).

The cosmetic syndrome of CTD is significantly aggravated by the presence of minor developmental anomalies, detected in the vast majority of patients with CTD. Moreover, the vast majority of patients have 1-5 microanomalies (hypertelorism, hypotelorism, “crumpled” ears, large protruding ears, low hair growth on the forehead and neck, torticollis, diastema, irregular teeth growth, etc.).

Mental disorders: neurotic disorders, depression, anxiety, hypochondria, obsessive-phobic disorders, anorexia nervosa.

It is known that patients with DST form a group of increased psychological risk, characterized by a reduced subjective assessment of their own capabilities, level of claims, emotional stability and performance, increased levels of anxiety, vulnerability, depression, and conformism. The presence of dysplastic-dependent cosmetic changes in combination with asthenia form the psychological characteristics of these patients: depressed mood, loss of a sense of pleasure and interest in activities, emotional lability, a pessimistic assessment of the future, often with ideas of self-flagellation and suicidal thoughts. A natural consequence of psychological distress is a limitation of social activity, a deterioration in the quality of life and a significant decrease in social adaptation, most relevant in adolescence and young adulthood.

Since the phenotypic manifestations of DST are extremely diverse and practically do not lend themselves to any unification, and their clinical and prognostic significance is determined not only by the degree of severity of one or another clinical sign, but also by the nature of the “combinations” of dysplastic-dependent changes, from our point of view, it is most optimal to use the terms “undifferentiated connective tissue dysplasia”, which defines a variant of DTD with clinical manifestations that do not fit into the structure of hereditary syndromes, and “differentiated connective tissue dysplasia, or syndromic form DST." Almost all clinical manifestations of CTD have their place in the International Classification of Diseases (ICD 10). Thus, at medical practitioner it is possible to determine the code of the leading manifestation (syndrome) of DST at the time of treatment. Moreover, in the case of an undifferentiated form of DST, when formulating a diagnosis, all the DST syndromes present in the patient should be indicated, thus forming a “portrait” of the patient, understandable to any doctor of subsequent contact.

Diagnosis formulation options.

1. Main disease. Wolff-Parkinson-White syndrome ( WPW syndrome) (I 45.6), associated with DST. Paroxysmal atrial fibrillation.

Background disease . DST:

Thoradiaphragmatic syndrome: asthenic chest, kyphoscoliosis of the thoracic spine II degree. Asthenic variant of the thoradiaphragmatic heart, grade 2 mitral valve prolapse without regurgitation, grade 1 metabolic cardiomyopathy;

Vegetovascular dystonia, cardiac variant;

Moderate myopia in both eyes;

Longitudinal flatfoot, 2nd degree.

Complications: chronic heart failure (CHF) IIA, FC II.

2. Main disease. Mitral valve prolapse of the second degree with regurgitation (I 34.1), associated with a minor anomaly of cardiac development - an abnormally located chord of the left ventricle.

Background disease . DST:

Thoradiaphragmatic syndrome: stage II pectus excavatum. Constrictive variant of the thoradiaphragmatic heart. Cardiomyopathy 1st degree. Vegetovascular dystonia;

Tracheobronchomalacia. Dyskinesia of the gallbladder and biliary tract. Moderate myopia in both eyes;

Dolichostenomelia, diastasis of the rectus abdominis muscles, umbilical hernia.

Complications of the main : CHF, FC II, respiratory failure (DN 0).

3. Underlying disease. Chronic purulent-obstructive bronchitis (J 44.0), associated with dysplastic-dependent tracheobronchomalacia, exacerbation.

Background disease . DST:

Thoradiaphragmatic syndrome: keeled chest deformity, kyphoscoliosis of the thoracic spine, right-sided costal hump; pulmonary hypertension, pulmonary artery dilatation, thoradiaphragmatic cor pulmonale, mitral and tricuspid valve prolapse, grade II metabolic cardiomyopathy. Secondary immunodeficiency;

Right-sided inguinal hernia.

Complications: pulmonary emphysema, pneumosclerosis, adhesive bilateral pleurisy, stage II DN, CHF IIA, FC IV.

Questions of tactics for managing patients with DST are also open. There are currently no universally accepted approaches to the treatment of patients with CTD. Considering that medicine is currently unavailable gene therapy, the doctor must use any methods that will help stop the progression of the disease. The most acceptable syndromic approach to the selection of therapeutic interventions: correction of the syndrome of autonomic disorders, arrhythmic, vascular, asthenic and other syndromes.

The leading component of therapy should be non-drug interventions aimed at improving hemodynamics (physical therapy, dosed exercise, aerobic regimen). However, often a significant factor limiting the achievement of the target level of physical activity in patients with DST is poor subjective tolerance of training (an abundance of asthenic, vegetative complaints, episodes of hypotension), which reduces patients’ adherence to this type of rehabilitation measures. Thus, according to our observations, up to 63% of patients have low tolerance to physical activity according to bicycle ergometry; most of these patients refuse to continue the course of physical therapy (PT). In this regard, it seems promising to use vegetotropic drugs and metabolic drugs in combination with exercise therapy. It is advisable to prescribe magnesium supplements. The versatility of the metabolic effects of magnesium, its ability to increase the energy potential of myocardiocytes, the participation of magnesium in the regulation of glycolysis, protein synthesis, fatty acids and lipids, the vasodilatory properties of magnesium are widely reflected in numerous experimental and clinical studies. A number of studies carried out to date have shown the fundamental possibility of eliminating characteristic cardiac symptoms and ultrasound changes in patients with CTD as a result of treatment with magnesium preparations.

We studied the effectiveness of staged treatment of patients with signs of DST: at the first stage, patients were treated with the drug "Magnerot", at the second drug treatment added a complex of physical therapy. The study included 120 patients with an undifferentiated form of CTD with low tolerance to physical activity (according to bicycle ergometry) aged from 18 to 42 years (average age 30.30 ± 2.12 years), 66 men, 54 women. Thoradiaphragmatic syndrome was manifested by pectus excavatum of varying degrees (46 patients), keeled chest deformity (49 patients), asthenic chest (7 patients), and combined changes in the spinal column (85.8%). Valve syndrome was represented by: mitral valve prolapse (grade I - 80.0%; grade II - 20.0%) with or without regurgitation (91.7%). In 8 people, dilatation of the aortic root was detected. As a control group, 30 apparently healthy volunteers, matched by gender and age, were examined.

By ECG data in all patients with DST, changes in the final part of the ventricular complex were detected: degree I disturbance of repolarization processes was detected in 59 patients; Grade II - in 48 patients, grade III was determined less frequently - in 10.8% of cases (13 people). Analysis of heart rate variability in patients with CTD compared to the control group demonstrated statistically significantly higher values of average daily indicators - SDNN, SDNNi, RMSSD. When comparing heart rate variability indicators with the severity of autonomic dysfunction in patients with CTD, an inverse relationship was revealed - the more pronounced the autonomic dysfunction, the lower the heart rate variability indicators.

At the first stage of complex therapy, Magnerot was prescribed according to the following regimen: 2 tablets 3 times a day for the first 7 days, then 1 tablet 3 times a day for 4 weeks.

As a result of the treatment, a clear positive dynamics in the frequency of cardiac, asthenic and various vegetative complaints presented by patients was noted. Positive dynamics of ECG changes manifested itself in a decrease in the incidence of disturbances in repolarization processes of the first degree (p< 0,01) и II степени (р < 0,01), sinus tachycardia(R< 0,001), синусовой аритмии (р < 0,05), экстрасистолии (р < 0,01), что может быть связано с уменьшением вегетативного дисбаланса на фоне регулярных занятий лечебной физкультурой и приема препарата магния. После лечения в пределах нормы оказались показатели вариабельности сердечного ритма у 66,7% (80/120) пациентов (исходно — 44,2%; McNemar c2 5,90; р = 0,015). По данным велоэргометрии увеличилась величина максимального потребления кислорода, рассчитанная косвенным методом, что отражало повышение толерантности к физическим нагрузкам. Так, по завершении курса указанный показатель составил 2,87 ± 0,91 л/мин (в сравнении с 2,46 ± 0,82 л/мин до начала терапии, p < 0,05). На втором этапе терапевтического курса проводились занятия ЛФК в течение 6 недель. Планирование интенсивности, длительности аэробной физической нагрузки осуществлялось в зависимости от clinical options undifferentiated DST taking into account the developed recommendations. It should be noted that the vast majority of patients completed the course of exercise therapy. There were no cases of early termination of classes due to poor subjective tolerability.

Based on this observation, a conclusion was made about the safety and effectiveness of the magnesium drug (Magnerot) in terms of reducing autonomic dysregulation and clinical manifestations of DST, a positive effect on physical performance, the advisability of its use at the preparatory stage before exercise therapy, especially in patients with CTD who initially have low tolerance to physical activity. Required component therapeutic programs should include collagen-stimulating therapy, reflecting today's ideas about the pathogenesis of DST.

To stabilize the synthesis of collagen and other components of connective tissue, stimulate metabolic processes and correct bioenergetic processes, medications can be used in the following recommendations.

1st year:

Magnerot 2 tablets 3 times a day for 1 week, then 2-3 tablets a day for up to 4 months;

For questions about literature, please contact the editor.

G. I. Nechaeva
V. M. Yakovlev, doctor medical sciences, Professor
V. P. Konev, Doctor of Medical Sciences, Professor
I. V. Druk, Candidate of Medical Sciences
S. L. Morozov
Omsk State Medical Academy of Roszdrav, Omsk
SGMA Roszdrav, Stavropol